Publications by authors named "Shintaro Akamatsu"
Variants in mitochondrial genomes (mtDNA) can cause various neurological and mitochondrial diseases such as mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS). Given the 16 kb length of mtDNA, continuous sequencing is feasible using long-read sequencing (LRS). Herein, we aimed to show a simple and accessible method for comprehensive mtDNA sequencing with potential diagnostic applications for mitochondrial diseases using the compact and affordable LRS flow cell "Flongle.
View Article and Find Full Text PDFAnti-IgLON5 disease as a differential diagnosis of multiple system atrophy.
Parkinsonism Relat Disord
July 2024
Article Synopsis
- - Anti-IgLON5 disease is a rare autoimmune condition that can mimic symptoms of various neurodegenerative disorders, notably progressive supranuclear palsy and multiple system atrophy (MSA).
- - In a study of 35 patients suspected of having MSA, anti-IgLON5 antibodies were found in three individuals who exhibited similar clinical features, such as parkinsonism and severe orthostatic hypotension, along with some atypical symptoms.
- - The research suggests that anti-IgLON5 disease should be considered when diagnosing MSA, emphasizing the need for thorough physical examinations to differentiate between these conditions effectively.